Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01129:Pfn4'

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52483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pfn4

Ensembl Gene

ENSMUSG00000020639

Gene Name

profilin family, member 4

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

4769022-4778813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4775505 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 114 (V114E)

Ref Sequence

ENSEMBL: ENSMUSP00000136765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000178879] [ENSMUST00000219438] [ENSMUST00000219503]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020967
AA Change: V114E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: V114E

Domain	Start	End	E-Value	Type
Pfam:Profilin	4	124	5.4e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178879
AA Change: V114E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: V114E

Domain	Start	End	E-Value	Type
Pfam:Profilin	5	124	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219438

Predicted Effect

probably damaging
Transcript: ENSMUST00000219503
AA Change: V114E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 67,920,604	F216L	possibly damaging	Het
Bace2	T	G	16: 97,408,430	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ckap2	C	T	8: 22,169,758	G569D	probably damaging	Het
Col11a1	T	C	3: 114,185,873		probably benign	Het
Col1a2	G	A	6: 4,535,846	D939N	unknown	Het
Creb3l2	A	T	6: 37,353,634		probably benign	Het
Cuedc1	T	A	11: 88,183,254	S205T	possibly damaging	Het
Cux1	G	A	5: 136,304,718		probably benign	Het
Cyp3a59	A	G	5: 146,098,279	M256V	probably benign	Het
Gzf1	C	A	2: 148,690,996	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,994,965	D575E	probably benign	Het
Lypd3	A	G	7: 24,640,593	M362V	probably benign	Het
Mppe1	C	A	18: 67,237,444	G61*	probably null	Het
Nr2c2	T	A	6: 92,158,416	D328E	probably benign	Het
Olfr6	T	C	7: 106,956,427	N170D	probably damaging	Het
Rab14	T	C	2: 35,183,386		probably benign	Het
Slc30a9	G	T	5: 67,342,143	G315C	probably damaging	Het
Spag16	A	T	1: 69,896,522	S303C	probably benign	Het
Spata16	C	T	3: 26,913,184		probably benign	Het
Srcap	T	C	7: 127,521,651	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,149,746		probably benign	Het
Vmn1r18	A	T	6: 57,390,497	F24Y	probably benign	Het
Vmn1r78	A	T	7: 12,153,238	T259S	probably benign	Het
Zc3h13	G	A	14: 75,335,999	D1527N	probably damaging	Het

Other mutations in Pfn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Pfn4	APN	12	4770240	missense	probably benign	0.01
IGL01726:Pfn4	APN	12	4774446	missense	probably benign	0.00
IGL02896:Pfn4	APN	12	4775451	missense	probably benign	0.02
R2082:Pfn4	UTSW	12	4775439	splice site	probably null
R2201:Pfn4	UTSW	12	4774382	splice site	probably null
R4373:Pfn4	UTSW	12	4770182	missense	probably damaging	0.99
R4376:Pfn4	UTSW	12	4770182	missense	probably damaging	0.99
R4377:Pfn4	UTSW	12	4770182	missense	probably damaging	0.99
R4692:Pfn4	UTSW	12	4774486	missense	probably damaging	1.00
R6762:Pfn4	UTSW	12	4775487	missense	probably damaging	1.00
R7711:Pfn4	UTSW	12	4774414	missense	possibly damaging	0.77
R8125:Pfn4	UTSW	12	4775487	missense	probably damaging	1.00

Posted On

2013-06-21